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publicationDate 2009-08-05-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-2085485-A2
titleOfInvention Method of diagnosis of cone-rod distrophy
abstract The present invention relates to a method of diagnosing or detecting cone-rod dystrophy in a mammal, particularly in a canine species. In particular, the invention relates to methods involving the detection of a deletion in the NPHP4 (nephroretinin 4) gene and associated biomarkers. The invention also provides primers, nucleic acid molecules, polypeptides, antibodies, as well as kits for use in such methods.
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